esv3975657
- Organism: Homo sapiens
- Study:estd229 (Fakhro et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array, Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:159,208
- Publication(s):Fakhro et al. 2015
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1160 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 786 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 1630 SVs from 94 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| esv3975657 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000008.11 | Chr8 | 2,482,291 | 2,641,112 | - |
| esv3975657 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 649,971 | 809,178 | - |
| esv3975657 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 2,339,401 | - | 2,584,751 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv25944511 | duplication | DGMQ-32273 | SNP array, Sequencing | Other, Probe signal intensity, Read depth | 3 | 1,592 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| essv25944511 | Remapped | Pass | NT_187576.1:g.(649 971_?)_(809178_?)d up | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 649,971 | 809,178 | - |
| essv25944511 | Remapped | Pass | NC_000008.11:g.(24 82291_?)_(2641112_ ?)dup | GRCh38.p12 | Second Pass | NC_000008.11 | Chr8 | 2,482,291 | 2,641,112 | - |
| essv25944511 | Submitted genomic | NC_000008.10:g.(23 39401_?)_(?_258475 1)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 2,339,401 | - | 2,584,751 |